title: The BCL2-938 C > A promoter polymorphism is associated with risk group classification in children with acute lymphoblastic leukemia.
abstract: BACKGROUND
  Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer. While current treatment regimens achieve almost 80% overall survival, long-term side effects of chemotherapeutic agents can be severe. The functional BCL2-938C > A promoter polymorphism is known to influence the balance between survival and apoptosis of malignant hematolymphoid cells. We investigated its usefulness as a marker for treatment stratification for children with ALL.
  
  
  METHODS
  We analyzed DNA from 182 children suffering from ALL in this study to determine genotypes of the -938 C > A polymorphism by "slow-down" PCR.
  
  
  RESULTS
  ALL patients with the BCL2-938CC genotype had an approximately 3-fold higher risk of belonging to a high-risk group. Within the high-risk group, 50% of BCL2-938CC patients were classified as high-risk due to poor prednisone response whereas only 33% of patients with AC and AA genotypes were classified as high-risk for the same reason.
  
  
  CONCLUSIONS
  Our results suggest that BCL2-938C > A genotyping may be beneficial for therapy response prediction in ALL patients, and warrant examination in a larger cohort to validate its usefulness for treatment stratification of pediatric ALL patients.
authors.affiliation: Department of Pediatric Hematology-Oncology, University Hospital Essen, Hufelandstrasse 55, 45147, Essen, Germany. annette.kuenkele@uk-essen.de.
authors.forename: Annette
authors.initials: A
authors.lastname: Künkele
authors.forename: Anja
authors.initials: A
authors.lastname: Grosse-Lordemann
authors.forename: Alexander
authors.initials: A
authors.lastname: Schramm
authors.forename: Angelika
authors.initials: A
authors.lastname: Eggert
authors.forename: Johannes H
authors.initials: JH
authors.lastname: Schulte
authors.forename: Hagen S
authors.initials: HS
authors.lastname: Bachmann
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D011241:Prednisone / Q000008:administration & dosage / Q000627:therapeutic use; D011379:Prognosis; D011401:Promoter Regions, Genetic; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000235:genetics*; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D019253:Proto-Oncogene Proteins c-bcl-2; D011241:Prednisone